Canonical Allele Identifier: CA280996472
Gene:

Linked Data

dbSNP Id: rs970992792
MyVariant Identifiers: chr16:g.49108697C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108697C>T , CM000678.2:g.49108697C>T GRCh38
NC_000016.9:g.49142608C>T , CM000678.1:g.49142608C>T GRCh37
NC_000016.8:g.47700109C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1247G>A
XR_001752138.2:n.591+5279G>A
XR_933517.2:n.810+1247G>A
Search 100 bp 5'
Search 100 bp 3'